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Homocystinuria is a rare inherited disorder. It is a type of "metabolic" disease, which means the body cannot break down certain substances in food. In this condition, the body cannot process an amino acid called methionine. This leads to a harmful buildup of a substance called homocysteine in the blood and urine.
read more about homocystinuria ...This is a genetic disease that is passed down in a family. A child must inherit a faulty gene from both parents to have the condition. The faulty gene means the body does not make enough of a specific enzyme. This enzyme is needed to break down homocysteine. Without the enzyme, the homocysteine builds up and causes damage.
A baby with homocystinuria usually looks healthy at birth. Symptoms start to show up as the child gets older. The condition can cause serious problems in many parts of the body. These include vision problems (the lens of the eye may become loose or dislocated), skeletal problems (like being very tall and thin with long limbs), and learning difficulties.
In many places, this condition is found right after birth with a newborn screening test. This is a blood test that is done by pricking the baby's heel. If the test shows a high level of methionine, the doctor will do more blood and urine tests. An eye exam can also help with the diagnosis if the eye lens is out of place.
There is no cure, so treatment is lifelong and must be started as soon as possible. The main treatment is a special diet that is very low in methionine. This means the child cannot eat high-protein foods like meat, fish, eggs, and cheese. They must drink a special medical formula. Some people also respond well to taking high doses of vitamin B6, which can help the faulty enzyme work better.
If it is not treated, the high levels of homocysteine can cause very serious, life-threatening problems. The most dangerous complication is the formation of blood clots. These clots can travel to the brain and cause a stroke, even in a young person. The buildup also leads to weak bones (osteoporosis).
No. It is a very rare inherited disorder. The exact number of people who have it is not known, but it is very uncommon.
No. Many adults can have high homocysteine from a vitamin B12 deficiency. Homocystinuria is a rare, severe genetic disease that starts at birth and causes much higher levels of homocysteine.
No, the diet does not cure the genetic problem. However, following the diet very strictly can prevent the buildup of homocysteine. This helps to prevent all the serious complications and allows a person to live a healthy life.
This condition is usually found during newborn screening. If it is not, you should see a doctor if your child has vision problems or if they are very tall and thin with long fingers and toes and loose joints. Early diagnosis and prompt treatment are central to reducing the risk of serious health problems.